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Gene Mutation Tied to Inherited Fatal Lung Disease

Those with variant had cancer as well as idiopathic pulmonary fibrosis, study finds

TUESDAY, Dec. 30 (HealthDay News) -- A mutation in a gene previously found to help protect the lungs against toxins may also be linked to lung cancer and some inherited cases of a lethal lung disease affecting older adults, a new study says.

Mutations in the SFTPA2 gene have been found in families with the inherited version of idiopathic pulmonary fibrosis, or IPF -- a disease that affects about 200,000 people in the United States. The disease usually affects people age 50 and older, causing severe scarring of the lungs that results in about 40,000 deaths annually, according to the Pulmonary Fibrosis Foundation. About one in 50 people with IPF have an inherited form of the disease, for which there is no cure beyond a lung transplant.

The findings were published in the January issue of The American Journal of Human Genetics.

The SFTPA2 gene normally produces the surfactant protein A2 in the fluid of the lungs, and it helps protect the organ from invading pathogens.

In the study, in which University of Texas Southwestern researchers looked at people with the inherited form of the disease, many of those with the mutation had lung cancer as well as IPF. The researchers suspect the mutations are tied to both.

The research team is now working on molecular studies to find out why these gene mutations increase the risk for lung cancer or IPF.

More information

The National Heart, Lung, and Blood Institute has more about idiopathic pulmonary fibrosis.

-- Kevin McKeever

SOURCE: University of Texas Southwestern Medical Center at Dallas, news release, Dec. 19, 2008

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